NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) AND Charlevoix-Saguenay spastic ataxia

Clinical significance:Likely pathogenic (Last evaluated: Apr 5, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000411666.1

Allele description [Variation Report for NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)]

NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
HGVS:
  • NC_000013.11:g.23334368G>A
  • NG_012342.1:g.104335C>T
  • NM_001278055.2:c.9067C>T
  • NM_014363.6:c.9508C>TMANE SELECT
  • NP_001264984.1:p.Arg3023Ter
  • NP_055178.3:p.Arg3170Ter
  • NC_000013.10:g.23908507G>A
  • NM_014363.4:c.9508C>T
  • NM_014363.5:c.9508C>T
Protein change:
R3023*
Links:
dbSNP: rs202199411
NCBI 1000 Genomes Browser:
rs202199411
Molecular consequence:
  • NM_001278055.2:c.9067C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.9508C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Charlevoix-Saguenay spastic ataxia (SACS)
Synonyms:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Spastic ataxia of Charlevoix-Saguenay; SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0010041; MedGen: C1849140; Orphanet: 98; OMIM: 270550

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000486037Counsylno assertion criteria providedLikely pathogenic
(Apr 5, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Diversity of ARSACS mutations in French-Canadians.

Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B.

Can J Neurol Sci. 2013 Jan;40(1):61-6.

PubMed [citation]
PMID:
23250129

Details of each submission

From Counsyl, SCV000486037.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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